Early-onset severe obesity due to complete deletion of the leptin gene in a boy
-
Elif Ozsu
,
Serdar Ceylaner
Abstract
Background:
Monogenic obesity results from single gene mutations. Extreme obesity starting at an early age, especially in infancy, which is associated with endocrinopathy and metabolic disturbances is key to the diagnosis of monogenic obesity.
Case presentation:
A 6-month-old boy was admitted to our clinic with severe obesity and food craving. He was born with a birth weight of 3400 g to first-cousin parents. He started to gain weight at an abnormal rate at the age of 2 months. He had hyperinsulinemia, dyslipidemia and grade 2 hepatosteatosis. He had a 7-year-old, healthy brother with a normal body weight. Because of severe early-onset obesity and abnormal food addiction, his leptin level was measured and found to be 0.55 ng/mL (normal range for his age and sex is 0.7–21 ng/mL). A LEP gene mutation was screened for and a gross leptin gene deletion was detected. To date, no report on a gross deletion of the LEP gene has been published in the literature.
Conclusions:
To the best of our knowledge, a gross deletion of the LEP gene has not been reported so far in the literature. Here we report a unique case with congenital leptin deficiency. Thus, clinicians should search for monogenic obesity in patients with early-onset severe obesity and endocrinopathy. Measuring the leptin level could aid clinicians to identify children with monogenic obesity.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Mini Review
- Severe complications after initial management of hyperglycemic hyperosmolar syndrome and diabetic ketoacidosis with a standard diabetic ketoacidosis protocol
- Original Articles
- Markers influencing the presence of partial clinical remission in patients with newly diagnosed type 1 diabetes
- Oral health status of children with type 1 diabetes: a comparative study
- The relationship between non-alcoholic fatty liver disease and small intestinal bacterial overgrowth among overweight and obese children and adolescents
- High attainment of optimal nutritional and growth status observed among Greek pediatric cystic fibrosis patients: results from the GreeCF study
- Secular trends in height, weight and body mass index of primary school children in Turkey between 1993 and 2016
- Effects of 1-year growth hormone replacement therapy on thyroid volume and function of the children and adolescents with idiopathic growth hormone deficiency
- Thyroid hormone levels in late preterm, early term and term infants: a study with healthy neonates revealing reference values and factors affecting thyroid hormones
- Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty
- Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
- Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
- Case Reports
- Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation
- Persistent de Quervain tenosynovitis induced by somatotropin treatment
- Early-onset severe obesity due to complete deletion of the leptin gene in a boy
- Congenital cataract with LSS gene mutations: a new case report
